Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
POTEG	404785	broad.mit.edu	37	14	19562088	19562088	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:19562088A>G	ENST00000409832.3	+	4	957	c.905A>G	c.(904-906)gAt>gGt	p.D302G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	302										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCACTGGATAGATATGGA	0.328000													17	3					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785749	140785749	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:140785749C>T	ENST00000370515.3	-	2	500	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AAAGTTCCTCCTGTAGCGAAC	0.488000													6	169					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809173	18809173	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:18809173G>A	ENST00000400664.1	+	1	1750	c.1698G>A	c.(1696-1698)acG>acA	p.T566T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	566						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCTCACGGGGATCTGGA	0.667000													15	29					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279207	16279207	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr22:16279207T>C	ENST00000343518.6	-	4	1067	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	339										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATATCTATCCAGTGCATT	0.318000													15	258					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27440680	27440680	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:27440680G>A	ENST00000263980.3	-	2	1025	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Silent_p.G150G	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	150					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.G150G(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGGTGTCTCGCCTACACCCT	0.617000													28	40					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23017075	23017075	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr20:23017075C>T	ENST00000255008.3	+	1	1019	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	319					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACAACTTCCGCCGATTCTT	0.587000													44	52					0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157105467	157105467	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:157105467T>A	ENST00000368192.4	-	3	144	c.80A>T	c.(79-81)gAg>gTg	p.E27V	ETV3_ENST00000326786.4_Missense_Mutation_p.E27V|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	27							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGGGGATGACTCTGTTTTGTA	0.527000													44	70					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72172772	72172772	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:72172772G>A	ENST00000356056.5	-	29	5998	c.5526C>T	c.(5524-5526)aaC>aaT	p.N1842N	MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000564571.1_Silent_p.N1842N|MYO9A_ENST00000444904.1_Silent_p.N1823N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1842	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAAGCCACGTTGCTAATCT	0.438000													45	100					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40955639	40955639	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:40955639A>G	ENST00000313164.9	+	10	1603	c.1244A>G	c.(1243-1245)cAa>cGa	p.Q415R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	415	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATCTTCCTCAAGTCATAAAA	0.413000													4	90					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726213	69726213	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:69726213G>A	ENST00000349945.1	+	14	3755	c.2203G>A	c.(2203-2205)Gtt>Att	p.V735I	NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I|NFAT5_ENST00000354436.2_Missense_Mutation_p.V811I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	811					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTATCTTCAGTTTTATTTTC	0.448000													44	86					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787720	24787720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:24787720G>A	ENST00000310677.4	-	26	3249	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1046					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGACACCCCGGCTGTAGCAG	0.562000													27	59					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87443690	87443690	+	Silent	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:87443690A>C	ENST00000517970.1	+	13	1750	c.1443A>C	c.(1441-1443)acA>acC	p.T481T	WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000341922.2_Silent_p.T351T|WWP1_ENST00000265428.4_Silent_p.T481T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	481	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACACAAAAACAACCCAGTGGG	0.348000													22	67					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84799071	84799071	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr6:84799071G>A	ENST00000257776.4	+	4	624	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	163					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCATGAAGTTTGACATCC	0.493000													44	58					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160050870	160050870	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:160050870G>A	ENST00000263635.6	+	17	3082	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCACGAGGAAGTTGTCAC	0.552000													25	45					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379182	138379182	+	Silent	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr9:138379182C>T	ENST00000356818.2	+	4	3375	c.2826C>T	c.(2824-2826)acC>acT	p.T942T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.T942T|PPP1R26_ENST00000401470.3_Silent_p.T942T|PPP1R26_ENST00000605286.1_Silent_p.T942T|PPP1R26_ENST00000604351.1_Silent_p.T942T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	942						nucleolus	protein binding										CCAGGAGCACCAGCGGCGGTG	0.652000													59	53					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434955	82434955	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:82434955T>C	ENST00000370728.1	+	17	3250	c.2605T>C	c.(2605-2607)Ttc>Ctc	p.F869L	LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	869					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATCTTCACCTTCTGCTTTTT	0.393000													47	120					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								20	57					0	0	1	0	0
AC093838.4	0	broad.mit.edu	37	2	132256505	132256505	+	RNA	SNP	A	A	C	rs3817572	by1000genomes	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:132256505A>C	ENST00000438378.2	+	0	478					NR_026922.1																						TGATTAAAGTAATTGAGGATT	0.388000													4	92					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049234	36049234	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr13:36049234C>G	ENST00000379919.4	-	1	1598	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	348					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCAGGATCTCTCTTGCCAGT	0.433000													37	84					0	0	1	0	0
FAM86FP	0	broad.mit.edu	37	12	8386973	8386973	+	RNA	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr12:8386973C>T	ENST00000427893.2	-	0	793																											AGCCAGCCTCCGCAGGACCCC	0.592000													6	122					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101425495	101425495	+	Silent	SNP	C	C	T	rs58142816	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:101425495C>T	ENST00000329841.5	+	2	655	c.123C>T	c.(121-123)caC>caT	p.H41H	ALDH1A3_ENST00000346623.6_Silent_p.H41H|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	41					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATGAATGGCACGAATCCAAGA	0.348000													18	36					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48335325	48335325	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:48335325A>C	ENST00000435803.1	+	21	9008	c.8984A>C	c.(8983-8985)aAt>aCt	p.N2995T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2995					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCGCCGAATCAGCTAAAT	0.393000													43	93					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232538163	232538163	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:232538163C>T	ENST00000366630.1	-	21	5355	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1666					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGGAGTTGTCGAAGAATTAA	0.393000													20	24					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736000													3	13					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667000													4	48					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1481915	1481915	+	Missense_Mutation	SNP	C	C	T	rs145279692		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:1481915C>T	ENST00000300954.5	-	15	2172	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	704					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGGCAGCGGTGGTGGGG	0.711000													8	16					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125885898	125885898	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:125885898G>A	ENST00000409134.3	-	15	1624	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	469					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCAAGCCAGCGAAAGATTCTG	0.348000													22	61					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72946552	72946552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:72946552C>A	ENST00000262209.4	-	22	2823	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	872						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAACTGTAGACCTCAACAAAG	0.294000													26	34					7.92952e-12	8.59032e-12	1	1	0
LPO	0	broad.mit.edu	37	17	56342147	56342147	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:56342147C>T	ENST00000262290.4	+	10	1647	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L|LPO_ENST00000421678.2_Missense_Mutation_p.P361L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	444					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGATACCCCCATATCAAGGC	0.478000													35	47					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:231150502G>A	ENST00000392045.3	+	17	1714	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000343805.6_Missense_Mutation_p.E474K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	534					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCTCCAGTGAAAAGAAGGC	0.458000													51	80					0	0	1	0	0
FEV	54738	broad.mit.edu	37	2	219846970	219846970	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:219846970G>C	ENST00000295727.1	-	3	717	c.136C>G	c.(136-138)Cag>Gag	p.Q46E		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	46					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGATCTGTCCGCTGCCT	0.697000			T	"""EWSR1,  FUS"""	Ewing sarcoma								8	6					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279204	47279204	+	Silent	SNP	C	C	T	rs147120348		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:47279204C>T	ENST00000271153.4	+	5	582	c.546C>T	c.(544-546)tgC>tgT	p.C182C	CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000452782.2_Silent_p.C19C|CYP4B1_ENST00000371923.4_Silent_p.C182C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	182					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ACATCTTCTGCGATGTGGGTC	0.582000													28	36					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453810	58453810	+	Silent	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:58453810T>C	ENST00000282308.3	-	3	562	c.366A>G	c.(364-366)gcA>gcG	p.A122A	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	122					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTTTCCTACATGCCCCGTCTG	0.458000													50	93					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85984926	85984926	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:85984926C>G	ENST00000383699.3	+	7	1337	c.710C>G	c.(709-711)tCa>tGa	p.S237*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.S228*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	228	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATACACCATCAGTTAAGATT	0.328000													56	83					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230724205	230724206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:230724205_230724206insC	ENST00000283943.5	-	3	361_362	c.183_184insG	c.(181-186)ggaggtfs	p.G62fs	TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.G104fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	62					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTAGGCACCTGCCCCGTTTTTT	0.450													7	266	---	---	---	---					
RP11-103G8.2	0	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													5	4	---	---	---	---					
STAG3L1	0	broad.mit.edu	37	7	74991540	74991541	+	RNA	DEL	TT	TT	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:74991540_74991541delTT	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN								nucleus	binding										GAGCATGttctttttttttttt	0.411													2	4	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			4	2	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52596001	52596002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr10:52596001_52596002insT	ENST00000395489.2	-	8	811_812	c.415_416insA	c.(415-417)caafs	p.Q139fs	A1CF_ENST00000282641.2_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.Q154fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.Q146fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	146	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCTTTTTGGTTTTTGGGATG	0.446													39	103	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													7	170	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													7	704	---	---	---	---					
ALKBH1	8846	broad.mit.edu	37	14	78161070	78161102	+	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ENST00000216489.3	-	3	449_471	c.455_splice	c.e3+1	p.145_splice	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	145					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTCTGATTGACAAGACTTACCTCAGGAACTCTTTGCTCTGTTCCCACAGATC	0.403													8	142	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													3	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7573996	7574003	+	Frame_Shift_Del	DEL	AGCTCTCG	AGCTCTCG	-	rs121912662		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:7573996_7574003delAGCTCTCG	ENST00000269305.4	-	10	1213_1220	c.1024_1031delCGAGAGCT	c.(1024-1032)gfs	p.REL342fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCTCATTCAGCTCTCGGAACATCTCG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	10	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)gafs	p.R907fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)|p.R907*(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGGAAGTCGATCTCTTAAT	0.418			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						154	38	---	---	---	---					
